MEK inhibitor shows promise for serious infant heart disease in Noonan/RASopathies
Official title: 1/2 Clinical Trial of a MEK Inhibitor for RASopathy-Associated Severe Infantile Hypertrophic Cardiomyopathy
Funded at Icahn School of Medicine at Mount Sinai · NIH-11349726 · Data updated 2026-11-12
A multi-site study tests whether the drug trametinib can help infants with severe heart muscle thickening caused by Noonan syndrome and related RASopathies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 7, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $946,567 |
| NIH project number | 1UG3HL185610-01 |
| Project ID | NIH-11349726 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are infants under 6 months with Ross Class III or IV heart failure and genetically confirmed gain-of-function RASopathy variants.
✕Less likely to help
Some infants may not respond to trametinib or may experience adverse effects that limit use.
What this research studies
Noonan syndrome and related RASopathies can cause dangerous infant heart hypertrophy with poor outcomes. This NIH-funded plan proposes a 12-month open-label Phase 3 trial in 25 affected infants under 6 months, comparing trametinib treatment to real-world standard care data from about 100 infants. The study will use Pediatric Heart Network sites in the US and track outcomes for an additional year after treatment, including potential relapse and retreatment. Researchers will leverage existing clinical trials infrastructure and data resources to monitor safety and effectiveness in this very young population.
Why it matters
Potential benefit: If successful, trametinib could reduce death or need for heart transplant in the most severely affected infants.
How similar studies have gone: Preclinical and retrospective studies suggested benefit, but this is one of the first prospective Phase 3 trials in this specific group.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Gelb, Bruce D — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gelb, Bruce D
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MEK inhibitor for severe infantile heart failure in Noonan and related RASopathies
A 12-month, multi-site trial tests whether the medicine trametinib can help infants with life-threatening heart failure due to Noonan syndrome and related genetic conditions.
-
Boosting heart cell energy in hypertrophic cardiomyopathy
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.